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Article

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

BMC bioinformatics - 4 Feb 2010

Gai Xiaowu, Perin Juan C, Murphy Kevin, O'Hara Ryan, D'arcy Monica, Wenocur Adam, Xie Hongbo M, Rappaport Eric F, Shaikh Tamim H, White Peter S

Abstract excerpt

BACKGROUND: Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. The increasing availability of high-resolution genome surveillance platforms provides opportunity for rapidly assessing research and clinical samples for CNV content, as well as for determining the potential...

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Identifiers

PMID: 20132550
DOI: 10.1186/1471-2105-11-74
PMCID: PMC2827374

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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